1. A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA. (October 2015) Authors: Diot, Alan; Hinks-Roberts, Alex; Lodge, Tiffany; Liao, Chunyan; Dombi, Eszter; Morten, Karl; Brady, Stefen; Fratter, Carl; Carver, Janet; Muir, Rebecca; Davis, Ryan; Green, Charlotte J; Johnston, Iain; Hilton-Jones, David; Sue, Carolyn; Mortiboys, Heather; Poulton, Joanna Journal: Pharmacological research Issue: Volume 100(2015:Oct.) Page Start: 24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. (June 2017) Authors: Bugiardini, Enrico; Poole, Olivia V.; Manole, Andreea; Pittman, Alan M.; Horga, Alejandro; Hargreaves, Iain; Woodward, Cathy E.; Sweeney, Mary G.; Holton, Janice L.; Taanman, Jan-Willem; Plant, Gordon T.; Poulton, Joanna; Zeviani, Massimo; Ghezzi, Daniele; Taylor, John; Smith, Conrad; Fratter, Ca... Journal: Neurology Issue: Volume 3:Number 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity. (August 2018) Authors: Ladds, Emma; Whitney, Andrea; Dombi, Eszter; Hofer, Monika; Anand, Geetha; Harrison, Victoria; Fratter, Carl; Carver, Janet; Barbosa, Ines A.; Simpson, Michael; Jayawant, Sandeep; Poulton, Joanna Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diagnosis of 'possible' mitochondrial disease: an existential crisis. Issue 3 (25th January 2019) Authors: Parikh, Sumit; Karaa, Amel; Goldstein, Amy; Bertini, Enrico Silvio; Chinnery, Patrick F; Christodoulou, John; Cohen, Bruce H; Davis, Ryan L; Falk, Marni J; Fratter, Carl; Horvath, Rita; Koenig, Mary Kay; Mancuso, Michaelangelo; McCormack, Shana; McCormick, Elizabeth M; McFarland, Robert; Nesbitt,... Journal: Journal of medical genetics Issue: Volume 56:Issue 3(2019) Page Start: 123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations. Issue 1 (29th August 2012) Authors: Pitceathly, Robert D S; Tomlinson, Susan E; Hargreaves, Iain; Bhardwaj, Nisha; Holton, Janice L; Morrow, Jasper M; Evans, Julie; Smith, Conrad; Fratter, Carl; Woodward, Cathy E; Sweeney, Mary G; Rahman, Shamima; Hanna, Michael G Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 84:Issue 1(2013) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. (10th January 2017) Authors: Liao, Chunyan; Ashley, Neil; Diot, Alan; Morten, Karl; Phadwal, Kanchan; Williams, Andrew; Fearnley, Ian; Rosser, Lyndon; Lowndes, Jo; Fratter, Carl; Ferguson, David J.P.; Vay, Laura; Quaghebeur, Gerardine; Moroni, Isabella; Bianchi, Stefania; Lamperti, Costanza; Downes, Susan M.; Sitarz, Kamil S... Journal: Neurology Issue: Volume 88:Number 2(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. (10th January 2017) Authors: Liao, Chunyan; Ashley, Neil; Diot, Alan; Morten, Karl; Phadwal, Kanchan; Williams, Andrew; Fearnley, Ian; Rosser, Lyndon; Lowndes, Jo; Fratter, Carl; Ferguson, David J.P.; Vay, Laura; Quaghebeur, Gerardine; Moroni, Isabella; Bianchi, Stefania; Lamperti, Costanza; Downes, Susan M.; Sitarz, Kamil S... Journal: Neurology Issue: Volume 88:Number 2(2017) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. Issue 6 (December 2016) Authors: McKiernan, Patrick; Ball, Sarah; Santra, Saikat; Foster, Katherine; Fratter, Carl; Poulton, Joanna; Craig, Kate; McFarland, Robert; Rahman, Shamima; Hargreaves, Iain; Gupte, Girish; Sharif, Khalid; Taylor, Robert W. Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 63:Issue 6(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. Issue 6 (December 2016) Authors: McKiernan, Patrick; Ball, Sarah; Santra, Saikat; Foster, Katherine; Fratter, Carl; Poulton, Joanna; Craig, Kate; McFarland, Robert; Rahman, Shamima; Hargreaves, Iain; Gupte, Girish; Sharif, Khalid; Taylor, Robert W. Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 63:Issue 6(2016) Page Start: 592 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Kearns–Sayre syndrome caused by defective R1/p53R2 assembly. Issue 9 (4th March 2011) Authors: Pitceathly, Robert D S; Fassone, Elisa; Taanman, Jan-Willem; Sadowski, Michael; Fratter, Carl; Mudanohwo, Ese E; Woodward, Cathy E; Sweeney, Mary G; Holton, Janice L; Hanna, Michael G; Rahman, Shamima Journal: Journal of medical genetics Issue: Volume 48:Issue 9(2011) Page Start: 610 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗